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Aliases for PCDHAC1 Gene

Aliases for PCDHAC1 Gene

  • Protocadherin Alpha Subfamily C, 1 2 3 5
  • PCDH-ALPHA-C1 2 3 4
  • Protocadherin Alpha-C1 3

External Ids for PCDHAC1 Gene

Previous GeneCards Identifiers for PCDHAC1 Gene

  • GC05U990126
  • GC05P140149
  • GC05P140214
  • GC05P140221
  • GC05P140176
  • GC05P140178
  • GC05P140286
  • GC05P140252
  • GC05P140261
  • GC05P140271
  • GC05P140280
  • GC05P140291
  • GC05P140301
  • GC05P140310
  • GC05P140313
  • GC05P140320
  • GC05P140343
  • GC05P135451
  • GC05P140354
  • GC05P140375
  • GC05P140394
  • GC05P140408
  • GC05P140424
  • GC05P140443
  • GC05P140461
  • GC05P141437
  • GC05P141572
  • GC05P141674
  • GC05P141775
  • GC05P141876
  • GC05P141984

Summaries for PCDHAC1 Gene

Entrez Gene Summary for PCDHAC1 Gene

  • This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCDHAC1 Gene

PCDHAC1 (Protocadherin Alpha Subfamily C, 1) is a Protein Coding gene. Diseases associated with PCDHAC1 include Spherocytosis, Type 5. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHA7.

UniProtKB/Swiss-Prot for PCDHAC1 Gene

  • Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

Additional gene information for PCDHAC1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHAC1 Gene

Genomics for PCDHAC1 Gene

Regulatory Elements for PCDHAC1 Gene

Enhancers for PCDHAC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H141084 1.3 FANTOM5 Ensembl ENCODE 11.6 +158.4 158376 1 CTCF SAP130 RAD21 YY1 E2F1 ZNF23 GATA3 POLR2A SMC3 ZNF143 PCDHAC2 PCDHB17P PCDHB1 MALINC1 IGIP PCDHGC4 PCDHB3 PCDHB10 PCDHAC1 PCDHA12
GH05H141832 1 ENCODE dbSUPER 11 +906.5 906506 1 NFIB ETV1 ZNF23 GATA3 RCOR1 PRDM10 TCF7L2 STAT1 CEBPB ELF1 PCDH1 PCDHAC2 PCDHA12 ARAP3 PCDHAC1 PCDHB17P KIAA0141 ENSG00000272108 PCDHA10 ENSG00000278925
GH05H141001 1.4 FANTOM5 Ensembl ENCODE 2.2 +76.9 76893 4 TBP PKNOX1 SIN3A KLF17 FEZF1 FOS RCOR1 CEBPB USF2 REST PCDHAC2 PCDHB1 PCDHA9 PCDHA7 PCDHA8 PCDHA4 PCDHA3 PCDHB2 DND1 PCDHAC1
GH05H140926 0.8 ENCODE 0.7 +0.2 239 0 KLF17 SIN3A ZNF2 RAD21 ZEB1 GLIS2 KLF7 SP3 REST ZEB2 PCDHA11 PCDHA10 PCDHAC1 PIR58635
GH05H140882 0.6 ENCODE 0.3 -43.7 -43669 0 ZNF217 CTCF GATA3 MNT REST CUX1 ENSG00000278901 PCDHAC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCDHAC1 on UCSC Golden Path with GeneCards custom track

Promoters for PCDHAC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000187828 131 601 CTCF KLF1 ZNF777 KLF17 SIN3A ZIC2 ZNF2 RAD21 ZEB1 HIC1

Genomic Location for PCDHAC1 Gene

Chromosome:
5
Start:
140,926,369 bp from pter
End:
141,012,344 bp from pter
Size:
85,976 bases
Orientation:
Plus strand

Genomic View for PCDHAC1 Gene

Genes around PCDHAC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHAC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHAC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHAC1 Gene

Proteins for PCDHAC1 Gene

  • Protein details for PCDHAC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H158-PCDC1_HUMAN
    Recommended name:
    Protocadherin alpha-C1
    Protein Accession:
    Q9H158
    Secondary Accessions:
    • Q9Y5F5
    • Q9Y5I5

    Protein attributes for PCDHAC1 Gene

    Size:
    963 amino acids
    Molecular mass:
    103942 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCDHAC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDHAC1 Gene

Post-translational modifications for PCDHAC1 Gene

  • Glycosylation at posLast=3838, Asn248, Asn274, and posLast=562562
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDHAC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCDHAC1 Gene

Domains & Families for PCDHAC1 Gene

Gene Families for PCDHAC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for PCDHAC1 Gene

Suggested Antigen Peptide Sequences for PCDHAC1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PCDHAC1: view

No data available for UniProtKB/Swiss-Prot for PCDHAC1 Gene

Function for PCDHAC1 Gene

Molecular function for PCDHAC1 Gene

UniProtKB/Swiss-Prot Function:
Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

Phenotypes From GWAS Catalog for PCDHAC1 Gene

Gene Ontology (GO) - Molecular Function for PCDHAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDHAC1: view
genes like me logo Genes that share phenotypes with PCDHAC1: view

Animal Models for PCDHAC1 Gene

MGI Knock Outs for PCDHAC1:

Animal Model Products

CRISPR Products

miRNA for PCDHAC1 Gene

miRTarBase miRNAs that target PCDHAC1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PCDHAC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCDHAC1 Gene

Localization for PCDHAC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHAC1 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCDHAC1 gene
Compartment Confidence
plasma membrane 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCDHAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 10380929
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCDHAC1: view

Pathways & Interactions for PCDHAC1 Gene

SuperPathways for PCDHAC1 Gene

No Data Available

Interacting Proteins for PCDHAC1 Gene

Gene Ontology (GO) - Biological Process for PCDHAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 10380929
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007267 cell-cell signaling IBA --
GO:0007399 nervous system development TAS 10380929
genes like me logo Genes that share ontologies with PCDHAC1: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHAC1 Gene

Drugs & Compounds for PCDHAC1 Gene

(1) Drugs for PCDHAC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with PCDHAC1: view

Transcripts for PCDHAC1 Gene

mRNA/cDNA for PCDHAC1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PCDHAC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHAC1 Gene

No ASD Table

Relevant External Links for PCDHAC1 Gene

GeneLoc Exon Structure for
PCDHAC1
ECgene alternative splicing isoforms for
PCDHAC1

Expression for PCDHAC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCDHAC1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCDHAC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PCDHAC1 Gene:

PCDHAC1

Evidence on tissue expression from TISSUES for PCDHAC1 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with PCDHAC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDHAC1 Gene

Orthologs for PCDHAC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDHAC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCDHAC1 33
  • 99.55 (n)
mouse
(Mus musculus)
Mammalia Pcdhac1 33 16
  • 85.43 (n)
rat
(Rattus norvegicus)
Mammalia Pcdhac1 33
  • 85.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PCDHAC1 34
  • 46 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PCDHAC1 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCNRC01 33
  • 63.72 (n)
lizard
(Anolis carolinensis)
Reptilia PCDHAC1 34
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii PCDHAC1 34
  • 34 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
ManyToMany
CSA.7308 34
  • 20 (a)
ManyToMany
Species where no ortholog for PCDHAC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCDHAC1 Gene

ENSEMBL:
Gene Tree for PCDHAC1 (if available)
TreeFam:
Gene Tree for PCDHAC1 (if available)

Paralogs for PCDHAC1 Gene

genes like me logo Genes that share paralogs with PCDHAC1: view

Variants for PCDHAC1 Gene

Sequence variations from dbSNP and Humsavar for PCDHAC1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs386352346 Uncertain significance 140,929,288(+) GATTC(A/G)GAATA intron-variant, reference, missense
rs1000122176 -- 140,965,777(+) TTTGC(C/T)TACAG intron-variant, upstream-variant-2KB
rs1000222500 -- 140,957,863(+) TTTCC(G/T)ATTTT intron-variant
rs1000356638 -- 140,999,029(+) TGATA(C/T)TTCGT intron-variant
rs1000408800 -- 140,926,027(+) CAGTT(G/T)GATGC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PCDHAC1 Gene

Variant ID Type Subtype PubMed ID
esv2505753 CNV deletion 19546169
esv2759382 CNV gain 17122850
nsv1031849 CNV loss 25217958
nsv599904 CNV loss 21841781

Variation tolerance for PCDHAC1 Gene

Residual Variation Intolerance Score: 72.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCDHAC1 Gene

Human Gene Mutation Database (HGMD)
PCDHAC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDHAC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHAC1 Gene

Disorders for PCDHAC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PCDHAC1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
spherocytosis, type 5
  • hereditary spherocytosis type 5
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PCDHAC1

Genetic Association Database (GAD)
PCDHAC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDHAC1
genes like me logo Genes that share disorders with PCDHAC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCDHAC1 Gene

Publications for PCDHAC1 Gene

  1. A striking organization of a large family of human neural cadherin-like cell adhesion genes. (PMID: 10380929) Wu Q … Maniatis T (Cell 1999) 2 3 4 60
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  3. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PMID: 22589738) Fox CS … Borecki IB (PLoS genetics 2012) 3 60
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 60
  5. Comparative DNA sequence analysis of mouse and human protocadherin gene clusters. (PMID: 11230163) Wu Q … Maniatis T (Genome research 2001) 3 60

Products for PCDHAC1 Gene

Sources for PCDHAC1 Gene

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